Siu V - Search Results

1

Deletion of 15q11.2(BP1-BP2) region: further evidence for lack of phenotypic specificity in a pediatric population.

Hashemi B, Bassett A, Chitayat D, Chong K, Feldman M, Flanagan J, Goobie S, Kawamura A, Lowther C, Prasad C, Siu V, So J, Tung S, Speevak M, Stavropoulos DJ, Carter MT. Hashemi B, et al. Among authors: siu v. Am J Med Genet A. 2015 Sep;167A(9):2098-102. doi: 10.1002/ajmg.a.37134. Epub 2015 May 6. Am J Med Genet A. 2015. PMID: 25946043

2

Detection of submicroscopic aberrations in patients with unexplained mental retardation by fluorescence in situ hybridization using multiple subtelomeric probes.

Fan YS, Zhang Y, Speevak M, Farrell S, Jung JH, Siu VM. Fan YS, et al. Among authors: siu vm. Genet Med. 2001 Nov-Dec;3(6):416-21. doi: 10.1097/00125817-200111000-00007. Genet Med. 2001. PMID: 11715006 Free article.

3

Breakpoint Associated with a novel 2.3 Mb deletion in the VCFS region of 22q11 and the role of Alu (SINE) in recurring microdeletions.

Uddin RK, Zhang Y, Siu VM, Fan YS, O'Reilly RL, Rao J, Singh SM. Uddin RK, et al. BMC Med Genet. 2006 Mar 2;7:18. doi: 10.1186/1471-2350-7-18. BMC Med Genet. 2006. PMID: 16512914 Free PMC article.

4

A child with features of Goldenhar syndrome and a novel 1.12 Mb deletion in 22q11.2 by cytogenetics and oligonucleotide array CGH: is this a candidate region for the syndrome?

Xu J, Fan YS, Siu VM. Xu J, et al. Among authors: siu vm. Am J Med Genet A. 2008 Jul 15;146A(14):1886-9. doi: 10.1002/ajmg.a.32359. Am J Med Genet A. 2008. PMID: 18553512 No abstract available.

5

Amish microcephaly: Long-term survival and biochemical characterization.

Siu VM, Ratko S, Prasad AN, Prasad C, Rupar CA. Siu VM, et al. Am J Med Genet A. 2010 Jul;152A(7):1747-51. doi: 10.1002/ajmg.a.33373. Am J Med Genet A. 2010. PMID: 20583149

6

Exome sequencing identifies NFS1 deficiency in a novel Fe-S cluster disease, infantile mitochondrial complex II/III deficiency.

Farhan SM, Wang J, Robinson JF, Lahiry P, Siu VM, Prasad C, Kronick JB, Ramsay DA, Rupar CA, Hegele RA. Farhan SM, et al. Mol Genet Genomic Med. 2014 Jan;2(1):73-80. doi: 10.1002/mgg3.46. Epub 2013 Nov 18. Mol Genet Genomic Med. 2014. PMID: 24498631 Free PMC article.

7

Biochemical and Hematologic Manifestations of Gastric Intrinsic Factor (GIF) Deficiency: A Treatable Cause of B12 Deficiency in the Old Order Mennonite Population of Southwestern Ontario.

Ferrand A, Siu VM, Rupar CA, Napier MP, Al-Dirbashi OY, Chakraborty P, Prasad C. Ferrand A, et al. Among authors: siu vm. JIMD Rep. 2015;18:69-77. doi: 10.1007/8904_2014_351. Epub 2014 Oct 12. JIMD Rep. 2015. PMID: 25308559 Free PMC article.

8

A fourth case of Feingold syndrome type 2: psychiatric presentation and management.

Ganjavi H, Siu VM, Speevak M, MacDonald PA. Ganjavi H, et al. BMJ Case Rep. 2014 Nov 12;2014:bcr2014207501. doi: 10.1136/bcr-2014-207501. BMJ Case Rep. 2014. PMID: 25391829 Free PMC article. Review.

9

Old gene, new phenotype: mutations in heparan sulfate synthesis enzyme, EXT2 leads to seizure and developmental disorder, no exostoses.

Farhan SM, Wang J, Robinson JF, Prasad AN, Rupar CA, Siu VM; FORGE Canada Consortium; Hegele RA. Farhan SM, et al. J Med Genet. 2015 Oct;52(10):666-75. doi: 10.1136/jmedgenet-2015-103279. Epub 2015 Aug 5. J Med Genet. 2015. PMID: 26246518

10

Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.

Sawyer SL, Hartley T, Dyment DA, Beaulieu CL, Schwartzentruber J, Smith A, Bedford HM, Bernard G, Bernier FP, Brais B, Bulman DE, Warman Chardon J, Chitayat D, Deladoëy J, Fernandez BA, Frosk P, Geraghty MT, Gerull B, Gibson W, Gow RM, Graham GE, Green JS, Heon E, Horvath G, Innes AM, Jabado N, Kim RH, Koenekoop RK, Khan A, Lehmann OJ, Mendoza-Londono R, Michaud JL, Nikkel SM, Penney LS, Polychronakos C, Richer J, Rouleau GA, Samuels ME, Siu VM, Suchowersky O, Tarnopolsky MA, Yoon G, Zahir FR; FORGE Canada Consortium; Care4Rare Canada Consortium; Majewski J, Boycott KM. Sawyer SL, et al. Among authors: siu vm. Clin Genet. 2016 Mar;89(3):275-84. doi: 10.1111/cge.12654. Epub 2015 Sep 22. Clin Genet. 2016. PMID: 26283276 Free PMC article. Review.

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